NLRP1-associated autoinflammatory disease with epithelial dyskeratosis

Several gain-of-function variants in NLRP1 cause a distinctive autoinflammatory disease reported under different names featuring mainly skin and mucosal involvement and variable systemic signs. Here, we report a new case of NLRP1-associated autoinflammatory disease in a 6-year-old Peruvian girl, who...

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Bibliographic Details
Published inPediatric dermatology Vol. 41; no. 2; pp. 279 - 283
Main Authors Lemus-Arteaga, Kevin, Ballona-Chambergo, Rosalía, Córdova-Calderón, Wilmer, Ventura-León, Alex, Torrelo, Antonio, Velásquez-Valderrama, Felipe
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.03.2024
Subjects
Adaptor Proteins, Signal Transducing - metabolism
Apoptosis Regulatory Proteins - metabolism
Autoimmune diseases
Case reports
Child
Dyskeratosis
Eye diseases
Female
Hereditary Autoinflammatory Diseases - complications
Hereditary Autoinflammatory Diseases - diagnosis
Hereditary Autoinflammatory Diseases - genetics
Humans
Inflammatory diseases
NLR Proteins
Nomenclature
Pediatrics
NLRP1
dyskeratosis
autoinflammatory disease
inflammasome
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Summary:Several gain-of-function variants in NLRP1 cause a distinctive autoinflammatory disease reported under different names featuring mainly skin and mucosal involvement and variable systemic signs. Here, we report a new case of NLRP1-associated autoinflammatory disease in a 6-year-old Peruvian girl, who presented with confluent hyperkeratotic plaques that drained purulent material with subsequent scarring. A c.3641C > G (p. Pro1214Arg) variant that has been previously been reported was found in NLRP1 and was not present in either parent. The term NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) is proposed to encompass all reported cases, which have received different nomenclature so far.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.15464